Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Ncaph2'

31192

Institutional Source

Beutler Lab

Gene Symbol

Ncaph2

Ensembl Gene

ENSMUSG00000008690

Gene Name

non-SMC condensin II complex, subunit H2

Synonyms

0610010J20Rik, 2610524G04Rik, D15Ertd785e, Kleisin beta

MMRRC Submission

038590-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R0384 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

89239922-89257029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89253594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 282 (I282N)

Ref Sequence

ENSEMBL: ENSMUSP00000086095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023285] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000228977] [ENSMUST00000145259] [ENSMUST00000167643]

AlphaFold

Q8BSP2

Predicted Effect

probably benign
Transcript: ENSMUST00000023285

SMART Domains

Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Glycos_trans_3N	23	85	1.5e-20	PFAM
Pfam:Glycos_transf_3	95	326	3.1e-50	PFAM
PYNP_C	374	448	6.46e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036987
AA Change: I251N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: I251N

Domain	Start	End	E-Value	Type
Pfam:DUF1032	20	576	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074552
AA Change: I282N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: I282N

Domain	Start	End	E-Value	Type
Pfam:DUF1032	51	607	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088717
AA Change: I282N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: I282N

Domain	Start	End	E-Value	Type
Pfam:CNDH2_N	11	123	1.2e-48	PFAM
Pfam:CNDH2_M	147	285	2.1e-20	PFAM
Pfam:CNDH2_C	308	598	1.9e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145793

Predicted Effect

probably benign
Transcript: ENSMUST00000228977

Predicted Effect

probably benign
Transcript: ENSMUST00000145259

Predicted Effect

probably benign
Transcript: ENSMUST00000167643

SMART Domains

Protein: ENSMUSP00000131943
Gene: ENSMUSG00000091780

Domain	Start	End	E-Value	Type
Pfam:SCO1-SenC	52	234	1.4e-47	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: This gene encodes a component of the condensin-2 complex. The encoded protein may regulate the structure of mitotic chromosomes. Loss of function of this gene disrupts T-cell development. There are two pseudogenes for this gene on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,566,725 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,341,265 (GRCm39)		probably benign	Het
Arhgef39	A	G	4: 43,498,613 (GRCm39)	L117P	probably damaging	Het
Atp13a1	A	T	8: 70,249,974 (GRCm39)	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,178,984 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,857,992 (GRCm39)	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,640,955 (GRCm39)	Y568H	probably benign	Het
Crabp2	T	C	3: 87,860,328 (GRCm39)	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,080,025 (GRCm39)	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,474,122 (GRCm39)	H106R	probably benign	Het
Dcps	T	C	9: 35,087,239 (GRCm39)	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,456,153 (GRCm39)	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,369,321 (GRCm39)	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 77,888,571 (GRCm39)	I158F	possibly damaging	Het
Dock3	A	G	9: 106,779,094 (GRCm39)		probably benign	Het
Eefsec	A	G	6: 88,258,632 (GRCm39)		probably null	Het
Fam204a	T	C	19: 60,209,728 (GRCm39)	M1V	probably null	Het
Fam98b	T	C	2: 117,098,328 (GRCm39)	V266A	possibly damaging	Het
Fat2	A	T	11: 55,160,291 (GRCm39)	I3274N	possibly damaging	Het
Fbh1	A	G	2: 11,754,389 (GRCm39)	I198T	probably damaging	Het
Fer	T	C	17: 64,231,179 (GRCm39)		probably benign	Het
Fhad1	T	A	4: 141,729,737 (GRCm39)	M89L	probably benign	Het
Fjx1	C	A	2: 102,281,452 (GRCm39)	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,496,168 (GRCm39)		probably benign	Het
Gm42669	T	A	5: 107,656,664 (GRCm39)	C976S	probably benign	Het
Gm4845	T	C	1: 141,184,823 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,388,332 (GRCm39)		probably benign	Het
Hook3	C	T	8: 26,534,263 (GRCm39)		probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Itga2b	A	T	11: 102,356,188 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,754,917 (GRCm39)	Y71H	probably benign	Het
Kndc1	A	T	7: 139,490,515 (GRCm39)	N339I	possibly damaging	Het
Ky	C	T	9: 102,419,289 (GRCm39)	T432I	probably benign	Het
Map4	C	T	9: 109,863,696 (GRCm39)	T307I	probably damaging	Het
Matn1	T	C	4: 130,671,787 (GRCm39)	L18P	probably benign	Het
Mindy4	G	A	6: 55,193,669 (GRCm39)	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Msto1	G	A	3: 88,817,646 (GRCm39)	Q441*	probably null	Het
Muc5ac	A	G	7: 141,365,988 (GRCm39)	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711 (GRCm39)	*879Q	probably null	Het
Nat8f2	T	C	6: 85,845,350 (GRCm39)	Y4C	possibly damaging	Het
Nid1	A	G	13: 13,638,421 (GRCm39)	T114A	probably benign	Het
Npr1	C	A	3: 90,372,474 (GRCm39)	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,515,775 (GRCm39)	P193S	probably damaging	Het
Nwd2	T	C	5: 63,963,025 (GRCm39)	F870L	probably benign	Het
Or10h1b	A	G	17: 33,395,522 (GRCm39)	I45V	probably damaging	Het
Or4c122	A	G	2: 89,079,414 (GRCm39)	I208T	possibly damaging	Het
Or6c5c	T	A	10: 129,298,909 (GRCm39)	Y121*	probably null	Het
Or8k30	T	A	2: 86,339,727 (GRCm39)	I308K	possibly damaging	Het
Phf14	A	G	6: 11,997,019 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm2	T	C	4: 142,862,258 (GRCm39)	E344G	probably benign	Het
Psmd12	T	C	11: 107,376,547 (GRCm39)	V61A	probably benign	Het
Relt	T	C	7: 100,496,712 (GRCm39)	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,413,266 (GRCm39)	I446F	probably benign	Het
Sema3b	G	A	9: 107,478,165 (GRCm39)	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600 (GRCm39)	Y601*	probably null	Het
Sun5	C	T	2: 153,700,885 (GRCm39)	V270I	probably benign	Het
Tex52	A	G	6: 128,356,496 (GRCm39)	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,552,186 (GRCm39)		probably benign	Het
Tnpo3	A	G	6: 29,582,163 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,657,280 (GRCm39)	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,599,811 (GRCm39)	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387 (GRCm39)	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 25,967,076 (GRCm39)	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,200,871 (GRCm39)	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,307,712 (GRCm39)	Y842F	probably benign	Het
Vps8	T	A	16: 21,325,575 (GRCm39)		probably benign	Het

Other mutations in Ncaph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00784:Ncaph2	APN	15	89,254,243 (GRCm39)	missense	probably damaging	1.00
IGL01640:Ncaph2	APN	15	89,248,041 (GRCm39)	splice site	probably null
IGL02550:Ncaph2	APN	15	89,254,064 (GRCm39)	nonsense	probably null
IGL02884:Ncaph2	APN	15	89,248,447 (GRCm39)	critical splice donor site	probably null
IGL03369:Ncaph2	APN	15	89,247,858 (GRCm39)	missense	probably benign	0.43
R0051:Ncaph2	UTSW	15	89,253,867 (GRCm39)	missense	probably damaging	0.98
R0051:Ncaph2	UTSW	15	89,253,867 (GRCm39)	missense	probably damaging	0.98
R1677:Ncaph2	UTSW	15	89,255,427 (GRCm39)	missense	probably damaging	1.00
R1680:Ncaph2	UTSW	15	89,248,825 (GRCm39)	missense	probably benign
R2570:Ncaph2	UTSW	15	89,254,678 (GRCm39)	missense	probably benign	0.03
R4647:Ncaph2	UTSW	15	89,254,635 (GRCm39)	missense	probably damaging	1.00
R4731:Ncaph2	UTSW	15	89,240,030 (GRCm39)	unclassified	probably benign
R4795:Ncaph2	UTSW	15	89,255,010 (GRCm39)	missense	probably damaging	1.00
R4796:Ncaph2	UTSW	15	89,255,010 (GRCm39)	missense	probably damaging	1.00
R4917:Ncaph2	UTSW	15	89,244,574 (GRCm39)	missense	probably damaging	1.00
R5089:Ncaph2	UTSW	15	89,240,148 (GRCm39)	critical splice donor site	probably null
R6143:Ncaph2	UTSW	15	89,248,206 (GRCm39)	critical splice donor site	probably null
R6500:Ncaph2	UTSW	15	89,248,407 (GRCm39)	missense	probably benign	0.00
R6768:Ncaph2	UTSW	15	89,248,202 (GRCm39)	nonsense	probably null
R6827:Ncaph2	UTSW	15	89,255,530 (GRCm39)	missense	probably damaging	1.00
R7033:Ncaph2	UTSW	15	89,255,559 (GRCm39)	missense	probably benign	0.00
R7272:Ncaph2	UTSW	15	89,248,385 (GRCm39)	missense	probably benign
R7386:Ncaph2	UTSW	15	89,254,459 (GRCm39)	nonsense	probably null
R8867:Ncaph2	UTSW	15	89,254,605 (GRCm39)	missense	probably benign	0.02
R8900:Ncaph2	UTSW	15	89,253,594 (GRCm39)	missense	probably benign	0.00
R9719:Ncaph2	UTSW	15	89,249,526 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTAGCACAAGTGAGCATCACCAG -3'
(R):5'- AGCATTAGGTCTCCCTACCAGAGC -3'

Sequencing Primer
(F):5'- ATCACCAGAGCGTGACTG -3'
(R):5'- TACCAGAGCTGACACAAGTG -3'

Posted On

2013-04-24